Abstract
Fifty-six patients with osteogenesis imperfecta underwent clinical and audiological assessment. They completed questionnaires regarding their physical and otological disabilities, and attended various centres for audiological testing. It was found that 31 patients had a hearing loss. Hearing loss began in the second and third decades as a conductive loss, and progressed to a mixed loss. Eight patients, found in all age groups, had a pure sensorineural loss in one or both ears. Patients with osteogenesis imperfecta congenita suffered more fractures, became more physically disabled and had more severe hearing loss than those with osteogenesis imperfecta tarda. Tympanometry was found to give unpredictable results and was unhelpful in assessing middle ear function in these patients.
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